A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3972843



Internal ID18890313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:191300293..191300343hg38UCSC Ensembl
Outerchr2:192165019..192165069hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1136455
Supporting Variants
SamplesKWS2
Known GenesMYO1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3972843
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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